Rokitanski syndrome

Rokitanski syndrome is the second most common cause of primary amenorrhea, that is, the non-appearance of it at puberty and is caused by a malformation of the internal genitalia. It occurs in one in every 4,000-5,000 healthy women.

• In sufferers, Muller's ducts do not develop the uterus, cervix, and upper vagina properly.
• They are women who can lead a normal life except to have sexual intercourse, since the vagina is very small or nonexistent, and to have children.
• The diagnosis usually carries significant emotional stress, especially in adolescence and, therefore, usually requires psychological treatment.

What is it and why is it produced?

The formation of the internal genitalia during the embryonic stage is carried out from two different structures, the Wolffian ducts in the male and the Mullerian ducts in the female. In Rokitanski syndrome and due to some cause that has not yet been discovered or due to a multifactorial origin, the Muller ducts do not develop correctly the structures that originate from them, which are the uterus, the cervix and the upper part of the uterus. vagina. Probably an alteration in genetic, environmental or hormonal factors prevents this correct formation. It is frequent that these alterations can be associated with others, among them the most frequent are kidney and then bone, especially with alterations of the spine.

What symptoms does it produce?

Rokitanski syndrome is usually diagnosed at puberty, due to the lack of appearance of the first menstruation. They are women with adequate body proportions and a normal development of secondary sexual characteristics (those that appear at puberty). This characteristic of developing secondary sexual characteristics is due to the fact that the ovaries are present and therefore their hormonal function is intact. In the gynecological examination, some normal ones are observed, with a vulva of normal proportion and a hymen also of correct aspect, but the vagina is absent or it is a small short cul-de-sac. Sometimes there is a cyclical pain similar to menstrual but not accompanied by menstrual flow. This pain is caused by a small rule in a rudimentary uterus that some women may have, but since there is no vagina that connects the uterus with the outside, there is no possibility of draining the bleeding to the outside.

What tests are performed for its diagnosis?

Initially, a gynecological examination is performed in consultation and the lack of a normal vagina is observed. Imaging tests will complement the diagnosis. blood tests show correct hormonal function, along with normal chromosomes. To begin with, one is performed that will show the absence of a uterus and the diagnosis will be complemented with an MRI that will ensure the absence of a uterus (or the existence of a rudimentary uterus, that is, small and non-functional), the presence of ovaries and It will help us diagnose possible associated malformations such as kidney or bone. On some occasion in which the images do not finish assuring the diagnosis, an explorer can be performed to obtain images of the interior of the abdomen by placing a camera inside.

What prognosis do you have?

Without treatment, they are women who can lead a normal life except to have sexual intercourse since the vagina is very small or nonexistent and to have children. For the rest, they are not at greater risk of suffering from any other disorder if it is not associated with other malformations.

What treatment does it have?

Currently, surgery is capable of performing a neovagina, that is, the creation of a vagina in the position in which it should have developed. After surgery, vaginal dilators should be used to prevent the vagina from closing. This diagnosis usually carries significant emotional stress, even more so when diagnosed in adolescence and, therefore, usually requires concomitant psychological treatment. The possibility of having children is still very unlikely since the absence of a uterus prevents it.